Výsledky vyhledávání - Robbins, Sarah M.
- Zobrazuji výsledky 1 - 5 z 5
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Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature Autor El Abiad, Jad M., Robbins, Sarah M., Cohen, Bernard, Levin, Adam S., Valle, David L., Morris, Carol D., de Macena Sobreira, Nara L.
Vydáno 2020Text -
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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy Autor Ben-Salem, Salma, Robbins, Sarah M, Sobreira, Nara LM, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Hamed, Sania Al, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh
Vydáno 2017Text -
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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome Autor Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.
Vydáno 2017Text